Canonical Allele Identifier: CA2322766005

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102705_11102706delinsCG , CM000681.2:g.11102705_11102706delinsCG	GRCh38
NC_000019.9:g.11213381_11213382delinsCG , CM000681.1:g.11213381_11213382delinsCG	GRCh37
NC_000019.8:g.11074381_11074382delinsCG	NCBI36
NG_009060.1:g.18325_18326delinsCG , LRG_274:g.18325_18326delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.490_491delinsCG	ENSP00000252444.6:p.Arg164=
ENST00000559340.2:c.232_233delinsCG	ENSP00000453696.2:p.Arg78=
ENST00000560467.2:c.232_233delinsCG	ENSP00000453513.2:p.Arg78=
ENST00000558518.6:c.232_233delinsCG MANE Select	ENSP00000454071.1:p.Arg78=
ENST00000252444.9:c.486_487delinsCG
ENST00000455727.6:c.232_233delinsCG	ENSP00000397829.2:p.Arg78=
ENST00000535915.5:c.190+2360_190+2361delinsCG	ENSP00000440520.1:n.190+2360_190+2361delinsCG
ENST00000545707.5:c.232_233delinsCG	ENSP00000437639.1:p.Arg78=
ENST00000557933.5:c.232_233delinsCG	ENSP00000453557.1:p.Arg78=
ENST00000557958.1:n.318_319delinsCG
ENST00000558013.5:c.232_233delinsCG	ENSP00000453346.1:p.Arg78=
ENST00000558518.5:c.232_233delinsCG	ENSP00000454071.1:p.Arg78=
NM_000527.4:c.232_233delinsCG , LRG_274t1:c.232_233delinsCG	NP_000518.1:p.Arg78=
NM_001195798.1:c.232_233delinsCG	NP_001182727.1:p.Arg78=
NM_001195799.1:c.190+2360_190+2361delinsCG	NP_001182728.1:n.190+2360_190+2361delinsCG
NM_001195800.1:c.232_233delinsCG	NP_001182729.1:p.Arg78=
NM_001195803.1:c.232_233delinsCG	NP_001182732.1:p.Arg78=
XM_011528010.1:c.232_233delinsCG	XP_011526312.1:p.Arg78=
XM_011528011.1:c.232_233delinsCG	XP_011526313.1:p.Arg78=
XR_244074.2:n.382_383delinsCG
XM_011528010.2:c.232_233delinsCG	XP_011526312.1:p.Arg78=
XR_001753685.2:n.349_350delinsCG
XR_001753686.2:n.349_350delinsCG
NM_000527.5:c.232_233delinsCG MANE Select	NP_000518.1:p.Arg78=
NM_001195798.2:c.232_233delinsCG	NP_001182727.1:p.Arg78=
NM_001195799.2:c.190+2360_190+2361delinsCG	NP_001182728.1:n.190+2360_190+2361delinsCG
NM_001195800.2:c.232_233delinsCG	NP_001182729.1:p.Arg78=
NM_001195803.2:c.232_233delinsCG	NP_001182732.1:p.Arg78=